Proteus综合征一例  

Case report:Proteus syndrome

作　　者：何靖楠[1] 陈涛[1] He Jingnan;Chen Tao(Department of Ultrasonography,Beijing Jishuitan Hospital,Beijing 100035,China)

机构地区：[1]北京积水潭医院超声科,100035

出　　处：《中华整形外科杂志》2021年第9期1003-1006,共4页Chinese Journal of Plastic Surgery

摘　　要：该文报道了1例罕见的海神综合征(Proteus综合征)病例。患儿男,10岁,既往右膝外翻,双下肢不等长,"发现左足跟肿物5年,左足趾肿物3年"于2018年7月收入北京积水潭医院。检查见患儿左足趾多发软组织膨大、左足跟明显不规则肿物,足底部皮肤脑回样结缔组织痣,双侧足部与小腿浅静脉畸形,骨盆偏斜,脊柱侧弯。行左足趾肿物切除术。病理结果:左足趾滑膜组织增生伴软骨化生;DNA分子检测:AKT1基因突变(c.49G>A,p.Glu17Lys)。病理及基因检测结果支持Proteus综合征诊断。术后随访24个月,病情控制良好。This article reported a case of a rare disease patient with Proteus syndrome.The 10-year-old male who presented with a 5-year history of mass on left heel and a 3-year history of mass on the toes of left foot,presented to Beijing Jishuitan Hospital in July 2018.Multiple lipomas on the heel of the left foot,the end of the foot was enlarged like a hammer.The skin at the bottom of the foot showed linear verrucous epidermal nevi.Superficial vein malformations of both feet and calves.He underwent left toe mass resection in Beijing Jishuitan Hospital.Pathological results:synovial tissue hyperplasia and cartilage metaplasia.Collagen fibers show tumor-like hyperplasia.The patient had a mutation(c.49G>A,p.Glu17Lys)in the oncogene AKT1.Pathological and genetic test results support the diagnosis of Proteus syndrome.Followed up was performed after operation for 24 months,the condition was well controlled.

关 键 词：PROTEUS综合征 临床表现 诊断与治疗 

分 类 号：R725.9[医药卫生—儿科]